Albinism is a rare metabolic disorder and is caused by a fault in an enzyme that is essential for the production of the pigment melanin. About 1 in 17,000 children is born with no or little colour in the skin, eyes, and hair or, more rarely in the eyes only. In majority of the cases, albinism is a result of an abnormal gene that is inherited in an autosomal recessive manner and affects the hair, skin, and eyes. In lesser common cases, the abnormal gene is inherited in an X-linked recessive manner from the mother, affecting only males.
The severity of symptoms vary from mild to severe, and depends on the amount of melanin produced. The symptoms of albinism include:
- Uncommon eye colour, which may range from pale to pink or watery blue.
- Severe visual impairment.
- Dislike for bright light.
- Unintentional and jerky eye movements.
- White hair and fair skin that do not tan.
What might be done?
Albinism can be diagnosed easily by the appearance of the baby at the time of birth. If this metabolic disorder is suspected, a blood test will be performed and that will confirm whether the child lacks this particular enzyme or not. There is no cure for albinism, but the affected child has a normal life expectancy. Certain measures can be taken to provide comfort to the child
- Tinted lenses can be worn, as they help with the aversion to bright light.
- Visual impairment due to albinism can be corrected with spectacles, and when the child grows up, with contact lenses.
- A hat, sun blocks, and sun screens should be used to protect the child’s skin from the bright sunlight.